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Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.
Moran C, Agostini M, Visser WE, Schoenmakers E, Schoenmakers N, Offiah AC, Poole K, Rajanayagam O, Lyons G, Halsall D, Gurnell M, Chrysis D, Efthymiadou A, Buchanan C, Aylwin S, Chatterjee KK. Moran C, et al. Among authors: visser we. Lancet Diabetes Endocrinol. 2014 Aug;2(8):619-26. doi: 10.1016/S2213-8587(14)70111-1. Epub 2014 Jun 23. Lancet Diabetes Endocrinol. 2014. PMID: 24969835 Free PMC article.
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
Demir K, van Gucht AL, Büyükinan M, Çatlı G, Ayhan Y, Baş VN, Dündar B, Özkan B, Meima ME, Visser WE, Peeters RP, Visser TJ. Demir K, et al. Among authors: visser tj, visser we. J Clin Endocrinol Metab. 2016 Aug;101(8):2945-54. doi: 10.1210/jc.2016-1404. Epub 2016 May 4. J Clin Endocrinol Metab. 2016. PMID: 27144938
Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis.
van Gucht ALM, Meima ME, Moran C, Agostini M, Tylki-Szymanska A, Krajewska MW, Chrzanowska K, Efthymiadou A, Chrysis D, Demir K, Visser WE, Visser TJ, Chatterjee K, van Dijk TB, Peeters RP. van Gucht ALM, et al. Among authors: visser tj, visser we. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3517-3525. doi: 10.1210/jc.2017-00840. J Clin Endocrinol Metab. 2017. PMID: 28911146 Free PMC article.
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration.
Strømme P, Groeneweg S, Lima de Souza EC, Zevenbergen C, Torgersbråten A, Holmgren A, Gurcan E, Meima ME, Peeters RP, Visser WE, Høneren Johansson L, Babovic A, Zetterberg H, Heuer H, Frengen E, Misceo D, Visser TJ. Strømme P, et al. Among authors: visser tj, visser we. Thyroid. 2018 Nov;28(11):1406-1415. doi: 10.1089/thy.2018.0595. Thyroid. 2018. PMID: 30296914
185 results